chr3:179199690:G>A Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,917,478-178,917,478 View the variant detail on this assembly version. |
| hg38 | chr3:179,199,690-179,199,690 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.353G>A | NP_006209.2:p.Gly118Asp |
| Ensemble | ENST00000263967.4:c.353G>A | ENST00000263967.4:p.Gly118Asp |
| ENST00000643187.1:c.353G>A | ENST00000643187.1:p.Gly118Asp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2013-01-10 | no assertion criteria provided | Cowden syndrome 5 |
germline
|
Detail |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of brain |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Thyroid tumor |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Pathogenic
|
2021-08-01 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2016-06-07 | no assertion criteria provided |
somatic
|
Detail | |
|
Pathogenic
|
2021-02-22 | criteria provided, single submitter | Angioosteohypertrophic syndrome |
somatic
unknown
|
Detail |
|
Pathogenic
|
2022-06-07 | criteria provided, single submitter | Cowden syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Cowden syndrome 5 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Cowden syndrome 5 | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Glioblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Breast neoplasm | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Neoplasm of brain | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Thyroid tumor | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND not provided | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Keratoacanthoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Angioosteohypertrophic syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) AND Cowden syndrome | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs587777790 dbSNP
- Genome
- hg38
- Position
- chr3:179,199,690-179,199,690
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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